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rs80359546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80359546(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340218
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359546
dbSNP (classic)rs80359546
ClinGenrs80359546
ebirs80359546
HLIrs80359546
Exacrs80359546
Gnomadrs80359546
Varsomers80359546
LitVarrs80359546
Maprs80359546
PheGenIrs80359546
Biobankrs80359546
1000 genomesrs80359546
hgdprs80359546
ensemblrs80359546
geneviewrs80359546
scholarrs80359546
googlers80359546
pharmgkbrs80359546
gwascentralrs80359546
openSNPrs80359546
23andMers80359546
SNPshotrs80359546
SNPdbers80359546
MSV3drs80359546
GWAS Ctlgrs80359546
Max Magnitude6

rs80359546, also known as 6091delT, c.5863_5863delT and p.Ser1955Glnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359546(-;-)
Alt rs80359546(-;-)
Reference Rs80359546(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914355delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113496.3,